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Gene | FGFR1 |
Variant | C381Y |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | FGFR1 C381Y lies within the transmembrane domain of the Fgfr1 protein (UniProt.org). C381Y has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Fgfr1 in cultured cells (PMID: 29533785), and therefore, is predicted to have no effect on Fgfr1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR1 mutant FGFR1 C381Y |
Transcript | NM_023110.3 |
gDNA | chr8:g.38419675C>T |
cDNA | c.1142G>A |
Protein | p.C381Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |